P715L (p.Pro715Leu) variant of STAT3 (P40763)
P715L (p.Pro715Leu) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
P715L (p.Pro715Leu) variant details
- p.Pro715Leu
- rs1064794957
- ClinGen CA16620408
- cosmic curated COSV10605
- ClinVar RCV000482055
- Pathogenic/Likely pathogenic
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.89
- MetaLR 0.92
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.49
- ClinVar: Pathogenic/Likely pathogenic (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- EBI: Pathogenic (in ADMIO1)
- UniProt: Pathogenic (in ADMIO1)
- Structural context available
- Cited in: Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could… (PMID 28253502)
- Cited in: Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome. (PMID 36228738)